Abstract
The patient, an 88‐year‐old man with a history of hypertension, was referred to the clinic after a computed tomography (CT) scan revealed a penetrating aortic ulcer during evaluation for intermittent chest pain. At the time of examination, he was asymptomatic, and his physical examination was unremarkable.
Laboratory tests demonstrated normal blood cell counts, no gammopathy, and unremarkable liver and renal function. Markers of inflammation, including C‐reactive protein and fibrinogen, were within normal limits. Serologic tests for infectious diseases (HIV, syphilis, and viral hepatitis) were negative, as was screening for autoimmune‐related diseases.
CT imaging confirmed the penetrating aortic ulcer (A; red arrow) and revealed vascular sheathing of the aorta with bilateral perirenal infiltrates (B; blue arrows). Doppler ultrasonography identified partial stenosis of the celiac trunk and the right renal artery. Given the high suspicion of malignancy, bone marrow aspiration was performed, showing no morphologic abnormalities. Next generation sequencing revealed mutations in TET2 and SF3B1.
An 18‐fluorodeoxyglucose positron emission tomography scan demonstrated hypermetabolic lesions in the long bones, consistent with osteosclerosis (C). Biopsy of the perirenal infiltrates showed fibrosis with a CD68+ and CD1a− histiocyte infiltrate (D), confirming Erdheim‐Chester disease (ECD). 1 Molecular analysis did not detect mutations in the mitogen‐activated pathway genes, including the absence of the BRAF V600E mutation. Because of significant vascular involvement, the patient was treated with the MEK inhibitor cobimetinib. 2 Three months after initiating the kinase inhibitor, the patient developed severe lower limb edema and rhabdomyolysis, necessitating treatment withdrawal. Following these adverse events, the patient and their family declined further evaluation. Although this limited our ability to confirm the resolution of the ulcer with treatment, the absence of significant atherosclerosis remains a strong argument for the role of ECD in the genesis of the lesion.
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References
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